Background: The aim of this study was to assess health-related quality of life in patients with pulmonary arterial hypertension associated with CHD and correlations with clinical status.
Methods: This prospective cross-sectional observational study included CHD patients with pulmonary arterial hypertension in 14 tertiary-care centres in France. We used two health-related quality of life questionnaires - SF-36 and Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR) - and one anxiety/depression Hospital Anxiety and Depression Scale (HADS) questionnaire.
Patients with pulmonary regurgitation after tetralogy of Fallot repair have impaired aerobic capacity; one of the reasons is the decreasing global ventricular performance at exercise, reflected by decreasing peak oxygen pulse. The aims of our study were to evaluate the impact of pulmonary valve replacement on peak oxygen pulse in a population with pure pulmonary regurgitation and with different degrees of right ventricular dilatation and to determine the predictors of peak oxygen pulse after pulmonary valve replacement. The mean and median age at pulmonary valve replacement was 27 years.
View Article and Find Full Text PDFAcyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause of early-onset cardiac hypertrophy and mitochondrial respiratory chain complex I deficiency in early childhood. We retrospectively studied a series of 20 unrelated children with cardiac hypertrophy and isolated complex I deficiency and identified compound heterozygosity for missense, splice site or frame shift ACAD9 variants in 8/20 patients (40%). Age at onset ranged from neonatal period to 9 years and 5/8 died in infancy.
View Article and Find Full Text PDFAims: To investigate the temporal trends in profile and outcomes of adults with congenital heart disease (ACHD) undergoing heart transplantation (HT).
Methods And Results: Out of a multi-institutional series of 2257 HT from 1988 to 2012, 100 HT were performed in 97 ACHD. We evaluated clinical characteristics, underlying defect, surgical history, perioperative issues, and outcomes.
Circ Cardiovasc Genet
February 2016
Background: Congenital heart defects are the most frequent malformations among newborns and a frequent cause of morbidity and mortality. Although genetic variation contributes to congenital heart defects, their precise molecular bases remain unknown in the majority of patients.
Methods And Results: We analyzed, by high-resolution array comparative genomic hybridization, 316 children with sporadic, nonsyndromic congenital heart defects, including 76 coarctation of the aorta, 159 transposition of the great arteries, and 81 tetralogy of Fallot, as well as their unaffected parents.
Pulmonary hypertension (PHT) in the preterm infant is frequently due to chronic lung disease. Rarely, PHT can be caused by pulmonary vein (PV) stenosis that has been described to be associated with prematurity. This study is a retrospective analysis of all premature infants <37 weeks of gestation with PV stenosis and PHT in two French pediatric congenital cardiac centers from 1998 till 2015.
View Article and Find Full Text PDFHeterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding matrix metallopeptidase 21) in nine index cases with heterotaxy. In addition, Mmp21-mutant mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, suggesting a new role for extracellular matrix remodeling in the establishment of laterality in vertebrates.
View Article and Find Full Text PDFObjectives: To assess the impact of different protocols on radiation dose and image quality for paediatric coronary computed tomography (cCT).
Materials And Methods: From January-2012 to June-2014, 140 children who underwent cCT on a 64-slice scanner were included. Two consecutive changes in imaging protocols were performed: 1) the use of adaptive statistical iterative reconstruction (ASIR); 2) the optimization of acquisition parameters.
Background: A novel formulation of bosentan was evaluated in children with pulmonary arterial hypertension (PAH) in FUTURE-1, which characterized its pharmacokinetic and clinical profile. The subsequent phase III, open-label, long-term extension study, FUTURE-2, aimed to provide long-term tolerability, safety and exploratory efficacy data.
Methods: Children (≥2 and <12 years) with idiopathic or heritable PAH, who completed 12-week treatment in FUTURE-1 and for whom bosentan was considered beneficial were enrolled, and continued to receive bosentan 4 mg/kg twice-daily, which could be down-titrated to 2mg/kg if not tolerated.
Background: Discordant atrioventricular with concordant ventriculo-arterial connections is a rare cardiac defect. When isolated, the haemodynamics resemble transposition of the great arteries. In complex heart defects such as heterotaxy, haemodynamics guide the surgical approach.
View Article and Find Full Text PDFBackground: Cardiac neonatal lupus syndrome is due to anti-SSA or SSB antibodies and mainly includes congenital heart block (CHB) and dilated cardiomyopathy (DCM). Its optimal management is still debated. We report a large series of autoimmune high degree CHB.
View Article and Find Full Text PDFPediatric-onset inflammatory myositis (IM) and systemic lupus erythematosus (SLE) are rare inflammatory diseases. Both result from the complex interaction of genetic and environmental factors. An increasing number of Mendelian conditions predisposing to the development of SLE have been recently identified.
View Article and Find Full Text PDFUnlabelled: With a prevalence of 2.6-4.5 %, infantile haemangiomas (IH) represent the most common tumour of infancy.
View Article and Find Full Text PDFThe etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification.
View Article and Find Full Text PDFBackground: Antiretroviral (ARV) regimens during pregnancy are highly effective in preventing mother-to-child transmission of human immunodeficiency virus (HIV). Congenital heart defects (CHDs) and anomalies in cardiac function have been reported in zidovudine (ZDV)-exposed uninfected children. We explored these associations in a large observational cohort and a randomized clinical trial.
View Article and Find Full Text PDFAims: To analyse the predictive role of myocardial inflammation assessed by cardiac magnetic resonance (CMR) on the outcome of recently diagnosed dilated cardiomyopathy in children.
Methods And Results: Over a period of 4 years, 66 children underwent CMR within 2 weeks after the diagnosis of dilated cardiomyopathy. CMR sequences sensitive for oedema, hyperaemia, and irreversible injury were applied: unenhanced cine steady-state free precession (SSFP), black-blood-prepared T1-weighted images, T2-weighted images, gadolinium-enhanced T1-weighted images (EGE), and late gadolinium-enhanced (LGE) images.
Objective: The study objective was to analyze the anatomy of the ventricular septal defect found in various phenotypes of outflow tract defects.
Methods: We reviewed 277 heart specimens with isolated outlet ventricular septal defect without subpulmonary stenosis (isolated outlet ventricular septal defect, 19); tetralogy of Fallot (71); tetralogy of Fallot with pulmonary atresia (51); common arterial trunk (54); double outlet right ventricle (65) with subaortic, doubly committed, or subpulmonary ventricular septal defect; and interrupted aortic arch type B (17). Special attention was paid to the rims of the ventricular septal defect viewed from the right ventricular side and the relationships between the tricuspid and aortic valves.
Pulmonary hypertension (PH) is a rare disease in newborns, infants, and children that is associated with significant morbidity and mortality. In the majority of pediatric patients, PH is idiopathic or associated with congenital heart disease and rarely is associated with other conditions such as connective tissue or thromboembolic disease. Incidence data from the Netherlands has revealed an annual incidence and point prevalence of 0.
View Article and Find Full Text PDFObjectives: Palliative Potts shunt has been proposed in children with suprasystemic pulmonary arterial hypertension (PAH).
Methods: A retrospective multicentre study was performed to assess short- and long-term outcomes after Potts shunt.
Results: From 2003 to 2014, 24 children underwent a Potts shunt [19 surgical, median age: 7.
Background: Percutaneous implantation of pulmonary valves has recently been introduced into clinical practice.
Aim: To analyse data of patients treated in France between April 2008 and December 2010.
Methods: Prospective, observational, multi-centric survey by means of a database registry of the Filiale de cardiologie pédiatrique et congénitale.
Background: Percutaneous pulmonary valve replacement (PPVR) has achieved standard of care for the management of dysfunctional right ventricular outflow tract.
Aim: Because of increasing reports of Melody(®) valve (Medtronic, Inc., Minneapolis, MN, USA) infective endocarditis (IE), we aimed to evaluate its incidence and predictors of occurrence.
Aims: Conduit rupture is a serious complication encountered during percutaneous pulmonary valve implantation (PPVI). We sought to evaluate the incidence and predictors of conduit rupture during right ventricular outflow tract (RVOT) transcatheter treatment.
Methods And Results: All consecutive patients who underwent transcatheter RVOT treatment from May 2008 to December 2011 were prospectively studied.
Fetal hydrops and myocarditis were diagnosed in a woman at 32 weeks of gestation (WG). Transplacental enterovirus infection was suspected because all other causes of myocarditis and hydrops were excluded, it was during an endemic period, and there was a setting of maternal infection (fever a few days before). We opted for in utero treatment because of the risk of resuscitating a neonate with myocarditis and hydrops.
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